Variant report

Variant	rs10261466
Chromosome Location	chr7:6147948-6147949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6046967..6050535-chr7:6141219..6149580,10	K562	blood:
2	chr7:6146902..6150449-chr7:6153024..6156434,3	K562	blood:
3	chr7:6145257..6148014-chr7:6162760..6164511,2	K562	blood:
4	chr7:6143739..6147263-chr7:6147410..6152468,7	K562	blood:
5	chr7:6063078..6065231-chr7:6147878..6150172,2	MCF-7	breast:
6	chr7:6146593..6149096-chr7:6152905..6155783,2	K562	blood:
7	chr7:6142947..6145756-chr7:6145999..6148954,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000106346	Chromatin interaction
ENSG00000106305	Chromatin interaction
ENSG00000122512	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10046499	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10216107	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10225119	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10226743	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10228389	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10228430	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10242394	0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10246266	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10250285	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10254689	0.83[AFR][1000 genomes]
rs10255598	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10255914	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10255918	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10257181	0.97[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10257248	0.88[ASN][1000 genomes]
rs10257654	0.95[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10257971	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10275021	0.88[ASN][1000 genomes]
rs10279137	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10280585	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10282278	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11768047	0.93[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs11770730	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667323	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12667392	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13437890	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17136048	0.88[ASN][1000 genomes]
rs28385378	0.94[ASN][1000 genomes]
rs28575447	0.95[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs28589289	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28880007	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34123833	0.81[ASN][1000 genomes]
rs60892137	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs61750868	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs61753115	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61753118	0.82[ASN][1000 genomes]
rs6944071	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs6949823	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs7796322	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9655493	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
7	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
8	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
9	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
10	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
12	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6145600-6148800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:6145600-6152200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:6145600-6155000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:6145600-6186000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr7:6145600-6186400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr7:6145800-6152600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:6145800-6152800	Weak transcription	Small Intestine	intestine
8	chr7:6146000-6152000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:6146200-6150800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr7:6146200-6152000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:6146200-6152600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr7:6146200-6152800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:6146200-6155000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr7:6146400-6148000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:6146400-6149000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:6146400-6149800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:6146400-6149800	Weak transcription	Right Atrium	heart
18	chr7:6146400-6150600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:6146400-6150600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:6146400-6150800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr7:6146400-6150800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:6146400-6150800	Weak transcription	Lung	lung
23	chr7:6146400-6150800	Weak transcription	Ovary	ovary
24	chr7:6146400-6152800	Weak transcription	Aorta	Aorta
25	chr7:6146400-6157600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:6146400-6158800	Weak transcription	Esophagus	oesophagus
27	chr7:6146400-6159400	Weak transcription	Gastric	stomach
28	chr7:6146400-6159800	Weak transcription	Pancreas	Pancrea
29	chr7:6146600-6148400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:6146600-6149000	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr7:6146600-6149000	Enhancers	HepG2	liver
32	chr7:6146600-6149200	Weak transcription	Fetal Stomach	stomach
33	chr7:6146600-6150600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr7:6146600-6150600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr7:6146600-6150600	Weak transcription	Primary B cells from cord blood	blood
36	chr7:6146600-6150600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:6146600-6150600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr7:6146600-6150800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:6146600-6150800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:6146600-6150800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr7:6146600-6150800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:6146600-6150800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr7:6146600-6150800	Weak transcription	Fetal Muscle Leg	muscle
44	chr7:6146600-6150800	Weak transcription	Fetal Thymus	thymus
45	chr7:6146600-6150800	Weak transcription	Left Ventricle	heart
46	chr7:6146600-6150800	Weak transcription	Spleen	Spleen
47	chr7:6146600-6151000	Weak transcription	Placenta	Placenta
48	chr7:6146600-6152800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr7:6146600-6152800	Weak transcription	Right Ventricle	heart
50	chr7:6146600-6154800	Weak transcription	Psoas Muscle	Psoas

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